Neurodevelopmental DisordersMONOGENETNDNCT04979182
Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders
An observational study of Neurodevelopmental Disorders, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
The main objective is to constitute a precise and exhaustive collection of clinical data (somatic and neurobehavioral data) of individuals affected by various frequent monogenic forms of neurodevelopmental disorders to better characterize the clinical phenotype of these disorders. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Neurodevelopmental Disorders
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- 15 May 2021to May 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient treated for TND linked to a mutation in one of the genes frequently mutated in this pathology, such as the DYRK1A, KMT2A or other genes
Who may be able to join
- Minor patient whose age is ≥ 4 years and ≤18 years
- Major patient with intellectual disability
- Patient treated in a participating center for TND linked to a mutation in one of the genes frequently mutated in this pathology, such as the DYRK1A, KMT2A or other genes;
- Patient having previously been seen in genetic consultation
- Parent (or legal guardian) not having expressed, after information, his opposition to the reuse of his data for the purposes of this research.
Who cannot join
- Parent (or legal guardian) who expressed his opposition to participating in the study.
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg
Strasbourg, 67091
PITON PITON, MD, 33 3 69 55 16 52, amelie.piton@chru-strasbourg.fr
Saïd CHAYER, PhD, HDR, 33 3 88 11 66 90, said.chayer@chru-strasbourg.fr
About this study
Official title: Somatic and Neurobehavioral Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders
The main objective is to constitute a precise and exhaustive collection of clinical data (somatic and neurobehavioral data) of individuals affected by various frequent monogenic forms of neurodevelopmental disorders to better characterize the clinical phenotype of these disorders.
A better knowledge of these manifestations is necessary to improve the management of individuals with these disorders.
The secondary objectives of this research are to inform practitioners, patients and their families about the clinical characteristics of these disorders to better understand their diversity and, finally, to improve their screening and diagnosis. Thus, our study aims at establishing clinical scores, linking genotypes and phenotypes and producing documents for professionals (such as the PNDS (National Diagnostic and Care Protocols))
- Conditions
- Neurodevelopmental Disorders
- Keywords
- Neurodevelopmental disorders, Rare disease, Genetic Diseases, Monogenic syndromes, Intellectual Disability, Autism spectrum disorder, Neurobehavioral Manifestations
- Medical subject headings
- Neurodevelopmental Disorders, Rare Diseases, Genetic Diseases, Inborn, Intellectual Disability, Autism Spectrum Disorder, Neurobehavioral Manifestations
What is being measured
The primary outcome is the main question the study is designed to answer.
Study of clinical profiles associated to different monogenic form of NDD
Measured: Files analysed retrospectively from January 01, 2015 to March 31, 2020 will be examined]
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2021
- Study start15 May 2021
- Primary completionMar 2024 (estimated)
- Study completionMay 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Neurodevelopmental DisordersStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Amélie PITON, MD, Principal investigator, Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04979182
- Sponsor's protocol ID
- 8209
- Acronym
- MONOGENETND
- Status last verified
- Apr 2021
- First submitted
- 16 Jul 2021
- Last updated
- 28 Jul 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Somatic and Neurobehavioral Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders
- ClinicalTrials.gov ID
- NCT04979182
- Acronym / sponsor ID
- MONOGENETND / 8209
- Conditions
- Neurodevelopmental Disorders
- Keywords
- Neurodevelopmental disorders, Rare disease, Genetic Diseases, Monogenic syndromes, Intellectual Disability, Autism spectrum disorder, Neurobehavioral Manifestations
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 15 May 2021 (actual)
- Primary completion
- Mar 2024 (estimated)
- Study completion
- May 2024 (estimated)
- First posted
- 28 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The main objective is to constitute a precise and exhaustive collection of clinical data (somatic and neurobehavioral data) of individuals affected by various frequent monogenic forms of neurodevelopmental disorders to better characterize the clinical phenotype of these disorders.
A better knowledge of these manifestations is necessary to improve the management of individuals with these disorders.
The secondary objectives of this research are to inform practitioners, patients and their families about the clinical characteristics of these disorders to better understand their diversity and, finally, to improve their screening and diagnosis. Thus, our study aims at establishing clinical scores, linking genotypes and phenotypes and producing documents for professionals (such as the PNDS (National Diagnostic and Care Protocols))
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient treated for TND linked to a mutation in one of the genes frequently mutated in this pathology, such as the DYRK1A, KMT2A or other genes
Key inclusion criteria (5 listed)
- Minor patient whose age is ≥ 4 years and ≤18 years
- Major patient with intellectual disability
- Patient treated in a participating center for TND linked to a mutation in one of the genes frequently mutated in this pathology, such as the DYRK1A, KMT2A or other genes;
- Patient having previously been seen in genetic consultation
- Parent (or legal guardian) not having expressed, after information, his opposition to the reuse of his data for the purposes of this research.
Key exclusion criteria (1 listed)
- Parent (or legal guardian) who expressed his opposition to participating in the study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Study of clinical profiles associated to different monogenic form of NDD
Time frame: Files analysed retrospectively from January 01, 2015 to March 31, 2020 will be examined]
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jul 2021.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Amélie PITON, MD principal investigator
Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurodevelopmental Disorders, run by University Hospital, Strasbourg, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 28 Jul 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Amélie PITON, MD (33 3 69 55 16 52, amelie.piton@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Study of clinical profiles associated to different monogenic form of NDD (time frame: Files analysed retrospectively from January 01, 2015 to March 31, 2020 will be examined]). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Jul 2021.